Choose a mendelian inherited disease. Summarize a recent study that has been pub
ID: 279918 • Letter: C
Question
Choose a mendelian inherited disease. Summarize a recent study that has been published about this disorder. Be sure to cite the source!
The summary should include answers to the following questions:
What is the purpose of the study?
What questions were asked?
How did the study address these questions?
What assumptions did the author make?
What were the major findings?
What surprised you or struck you as interesting?
What confused you?
What questions are still unanswered?
The summary should also include the background and methods described in your own words, as well as, how the disease is inherited and an example of a pedigree for the particular disease.
Explanation / Answer
I have chosen Duchene Muscular Dystrophy (DMD), a condition that follows X linked recessive pattern of inheritance. The recently published article about DMD is cited below,
Nowak KJ, Davies KE. Duchenne Muscular Dystrophy and dystrophin; pathogenesis and opportunities for treatment. EMBO Rep 2004; 5(9): 872-876.
Muscular dystrophy in DMD is caused by destruction of muscular fibroblasts. The study aims to find whether repopulation of fibroblasts ptevent the dystrophic process in muscle cells. The study tried to find answer for the question whether blocking of proteosome degradation pathway is of any help in testing DMD. The study found that gene therapy, upregulation of other structural proteins also help to treat DMD. Stem cell transplantation and myoblast proliferation could be a field of research in DMD.